奥卡西平诱发的Stevens-Johnson综合征的临床特点及基因表达

目的 探讨奥卡西平诱发的Stevens-Johnson综合征(SJS)的临床特点及易感基因HLA-B*1502基因检测的意义.方法 回顾性分析1例由奥卡西平诱发的SJS患儿的临床表现、实验室检查以及基因学检测特点,同时对SJS的流行病学、病因学及发病机制等相关文献进行复习,尤其是对芳香族抗癫药物诱发SJS的基因学研究进行分析.结果 本文1例继发性癫患儿在奥卡西平加量治疗过程中出现发热、皮疹,进而发展至大疱及脓疱,并出现表皮松弛脱落.实验室检查结果提示外周血白细胞增多、红细胞沉降率升高、ALT升高(337 U·L-1)、AST升高、尿蛋白++.结合该患儿的临床资料判断皮损为奥卡西平所致.利用基因学检测提示HLA-B*1502阳性.该患儿停用奥卡西平后改为托吡酯等治疗,住院2周后体温正常,皮疹消退,临床痊愈出院.结论 奥卡西平诱发的SJS是临床少见的严重药物不良反应,典型的临床表现为严重的皮损、发热及内脏器官损害,基因学检查显示该药物不良反应和HLA-B*1502基因呈显著相关,对HLA-B*1502易感基因进行检测可预测芳香族抗癫药物诱发的此项不良反应.

Clinical Characteristics and Genetic Expression of Oxcarbazepine-Induced Stevens-Johnson Syndrome

Objective To investigate the clinical characteristics and genetic association of oxcarbazepine-induced Stevens-Johnson syndrome(SJS) with HLA-B*1502. Methods A boy with oxcarbazepine-induced SJS was reported,and the clinical characteristics,laboratory examination,and genetic study were described.The existing literatures on the epidemiology,etiology and pathogenesis of SJS were also reviewed.The detailed genetic association studies of antiepileptic drug-induced-SJS was included. Results The patient with seco...